PRE-IMPLANTATION GENETIC DIAGNOSIS USING POLAR BODIES
Tomi D1,*, Voigt R1, Eckhold J1, Hinrichs F1, Griesinger G2, Shulze-Mosgau A2, Schöpper B2, Al-Hasani S2, Diedrich K2, Schwinger E1
*Corresponding Author: Dr. Diana Tomi, Institute of Human Genetics, Medical University of Lübeck, RatzeČburger Allee 160, 23538 Lübeck, Germany; Tel.: +49(0)451-500-2621; Fax: +49(0)451-500-4187; E-mail: dianatomi@hotmail.com
page: 17

Abstract

Couples with a high risk for genetic diseases in their offspring now have the possibility of undergoing pre-im­plantation genetic diagnosis (PGD), usually performed on blastomeres. The only possibility of performing PGD in Germany at this time is the use of polar body (PB) analy­sis. This paper presents the first results of PB diagnosis on cystic fibrosis (CF) and aneuploidies. For two couples with children affected with CF, a multiplex polymerase chain reaction (PCR) assay was established, to detect the muta­tion and linked polymorphic markers in PBs. In one of these two couples, second PBs could also be investigated, leading to a higher accuracy of diagnosis. For aneuploidy diagnosis, 102 PBs from 13 couples undergoing intracyto­plasmic sperm injection (ICSI), were investigated. Aneu­ploidies of the chromosomes 15, 16 and 22 were tested using fluorescent in situ hybridization (FISH). The aneu­ploidy rate only for these chromosomes was 19.8%.

Key words: Polar bodies (PBs); Pre-implantation genetic diagnosis (PGD); Cystic fibrosis (CF); Aneu­ploidy.




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